IFITM5 mutations and osteogenesis imperfecta

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• 作者：Nobutaka Hanagata
• 关键词：IFITM5 ; Heterozygous mutation ; Osteogenesis imperfecta type V
• 刊名：Journal of Bone and Mineral Metabolism
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：34
• 期：2
• 页码：123-131
• 全文大小：970 KB
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• 作者单位：Nobutaka Hanagata (1) (2)
  
  1. Nanotechnology Innovation Station, National Institute for Materials Science, 1-2-1 Sengen, Tsukuba, Ibaraki, 305-0047, Japan
  2. Graduate School of Life Science, Hokkaido University, N10W8, Kita-ku, Sapporo, Hokkaido, 060-0812, Japan
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Metabolic Diseases
  Orthopedics
  Internal Medicine
  
• 出版者：Springer Japan
• ISSN：1435-5604

文摘

Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that has been shown to be a positive regulatory factor for mineralization in vitro. However, Ifitm5 knockout mice do not exhibit serious bone abnormalities, and thus the function of IFITM5 in vivo remains unclear. Recently, a single point mutation (c.-14C>T) in the 5′ untranslated region of IFITM5 was identified in patients with osteogenesis imperfecta type V (OI-V). Furthermore, a single point mutation (c.119C>T) in the coding region of IFITM5 was identified in OI patients with more severe symptoms than patients with OI-V. Although IFITM5 is not directly involved in the formation of bone in vivo, the reason why IFITM5 mutations cause OI remains a major mystery. In this review, the current state of knowledge of OI pathological mechanisms due to IFITM5 mutations will be reviewed.